ClinVar Miner

Submissions for variant NM_001089.3(ABCA3):c.681C>T (p.Ala227=)

gnomAD frequency: 0.01639  dbSNP: rs45480502
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150113 SCV000196937 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Ala227Ala in exon 8 of ABCA3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 2.2% (192/8600) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs45480502).
Illumina Laboratory Services, Illumina RCV000359917 SCV000396152 benign Interstitial lung disease due to ABCA3 deficiency 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV001610456 SCV001840798 benign not provided 2019-03-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001610456 SCV002436973 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002362785 SCV002664934 benign Hereditary pulmonary alveolar proteinosis 2019-06-13 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV001610456 SCV005290785 benign not provided criteria provided, single submitter not provided

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